Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports

RATIONALE: Postnatal growth failure and progressive neurologic dysfunction and increasing multiorgan involvement are the main clinical features of Cockayne syndrome (CS). CS is a rare autosomal recessive disorder of the group of DNA repair diseases. Usually, genetic carriers, such as parents of pati...

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Detalles Bibliográficos
Autores principales: Al Kaissi, Ali, Kuranova, Mirya, Pleskach, Nadezhda, Kenis, Vladimir, Nassib, Nabil M., Grill, Franz, Ganger, Rudolf, Gerit Kircher, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815703/
https://www.ncbi.nlm.nih.gov/pubmed/29390291
http://dx.doi.org/10.1097/MD.0000000000008970

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815703/
https://www.ncbi.nlm.nih.gov/pubmed/29390291
http://dx.doi.org/10.1097/MD.0000000000008970

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